title: Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma.
abstract: BACKGROUND
  Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together.
  
  
  METHODS
  The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43-year-old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma.
  
  
  RESULTS
  Germline mutation analysis of phosphatase and tensin homolog (PTEN), succinate dehydrogenase subunit B (SDHB), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit D (SDHD) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the PTEN gene and 1 polymorphic site in exon 1 of the SDHB gene, but absence of known pathogenic mutations.
  
  
  CONCLUSIONS
  The coexistence of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma is described for the first time, and could represent a novel genetic syndrome with an as yet unidentified common genetic basis.
authors.affiliation: Department of Endocrinology, "Hippokration" General Hospital of Thessaloniki, Thessaloniki, Greece.
authors.forename: Zoe A
authors.initials: ZA
authors.lastname: Efstathiadou
authors.forename: Michail
authors.initials: M
authors.lastname: Sapranidis
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Anagnostis
authors.forename: Marina D
authors.initials: MD
authors.lastname: Kita
mesh_terms: D001707:Biopsy, Needle; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D006258:Head and Neck Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D010235:Paraganglioma / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D010911:Pituitary Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D035583:Rare Diseases; D014057:Tomography, X-Ray Computed / Q000379:methods; D018608:Ultrasonography, Doppler
keywords: Cowden-like syndrome; neck paraganglioma; papillary thyroid cancer; pituitary adenoma; prolactinoma